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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-27649741-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=27649741&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 27649741,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016240.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "NM_016240.3",
"protein_id": "NP_057324.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 606,
"cds_start": 47,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301904.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016240.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "ENST00000301904.4",
"protein_id": "ENSP00000301904.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 606,
"cds_start": 47,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016240.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301904.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "ENST00000337221.8",
"protein_id": "ENSP00000337985.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 466,
"cds_start": 47,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337221.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "ENST00000890601.1",
"protein_id": "ENSP00000560660.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 606,
"cds_start": 47,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890601.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "ENST00000890602.1",
"protein_id": "ENSP00000560661.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 606,
"cds_start": 47,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890602.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "ENST00000970378.1",
"protein_id": "ENSP00000640437.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 600,
"cds_start": 47,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970378.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "ENST00000890608.1",
"protein_id": "ENSP00000560667.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 593,
"cds_start": 47,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890608.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "ENST00000890603.1",
"protein_id": "ENSP00000560662.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 566,
"cds_start": 47,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890603.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "NM_182826.2",
"protein_id": "NP_878185.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 466,
"cds_start": 47,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182826.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "ENST00000890606.1",
"protein_id": "ENSP00000560665.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 258,
"cds_start": 47,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890606.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "XM_017013535.2",
"protein_id": "XP_016869024.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 606,
"cds_start": 47,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013535.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "XM_047421850.1",
"protein_id": "XP_047277806.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 606,
"cds_start": 47,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421850.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "XM_017013536.3",
"protein_id": "XP_016869025.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 490,
"cds_start": 47,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013536.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile",
"transcript": "XM_017013537.2",
"protein_id": "XP_016869026.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 483,
"cds_start": 47,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013537.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.8-3C>T",
"hgvs_p": null,
"transcript": "ENST00000890604.1",
"protein_id": "ENSP00000560663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.8-1767C>T",
"hgvs_p": null,
"transcript": "ENST00000890605.1",
"protein_id": "ENSP00000560664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": null,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890605.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.8-7041C>T",
"hgvs_p": null,
"transcript": "ENST00000890607.1",
"protein_id": "ENSP00000560666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": null,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890607.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "c.8-7041C>T",
"hgvs_p": null,
"transcript": "ENST00000932941.1",
"protein_id": "ENSP00000603000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": null,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932941.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"hgvs_c": "n.346C>T",
"hgvs_p": null,
"transcript": "XR_949419.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_949419.3"
}
],
"gene_symbol": "SCARA3",
"gene_hgnc_id": 19000,
"dbsnp": "rs142390850",
"frequency_reference_population": 0.00002292197,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000102608,
"gnomad_genomes_af": 0.000144454,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09606203436851501,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.2121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.73,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_016240.3",
"gene_symbol": "SCARA3",
"hgnc_id": 19000,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.47C>T",
"hgvs_p": "p.Thr16Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}